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Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis

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ClinicalTrials.gov Identifier: NCT01127854
Recruitment Status : Enrolling by invitation
First Posted : May 21, 2010
Last Update Posted : March 22, 2018
Sponsor:
Information provided by (Responsible Party):
William E. Haley, M.D., Mayo Clinic

Brief Summary:
Recent investigations from this group have identified that genetic variants of genes associated with monogenic forms of nephrolithiasis are expressed in idiopathic calcium oxalate kidney stone patients and could influence stone forming risk. Utilizing patient samples from the Mayo Clinic Florida Kidney Stone Registry, we will demonstrate that expression of these heterozygous mutations in idiopathic nephrolithiasis act as genetic modifiers of disease presentation increasing risk of kidney stone formation. Complimented by the analysis of environmental and lifestyle risk factors, these studies will define environmental and genetic susceptibility factors involved in kidney stone formation and reoccurrence.

Condition or disease
Kidney Stones Urolithiasis Calcium Oxalate Urolithiasis

  Show Detailed Description

Study Type : Observational
Actual Enrollment : 900 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Pilot Study to Evaluate the Contribution of Gene Variants to Idiopathic Urolithiasis
Study Start Date : December 2009
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : December 2018

Resource links provided by the National Library of Medicine


Group/Cohort
Cases
Controls



Primary Outcome Measures :
  1. To identify the frequency of known genetic variants associated with monogenic forms of nephrolithiasis within idiopathic stone forming populations and associate their presence with heightened risk. [ Time Frame: December 2018 ]

Biospecimen Retention:   Samples With DNA
Blood, Urine and DNA


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Mayo Clinic in Jacksonville, FL
Criteria

Inclusion Criteria:

Cases:

  • History of calcium oxalate stones
  • 18 years of age or older
  • Willing to provide a blood sample, and questionnaire

Controls:

  • 18 years of age or older
  • No personal history of urolithiasis
  • Willing to provide a blood sample and questionnaire

Exclusion Criteria:

Cases:

  • Secondary causes of urolithiasis including: Bowel disease, Renal tubular acidosis, hyperparathyroidism

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01127854


Locations
United States, Florida
Mayo Clinic
Jacksonville, Florida, United States, 32224
Sponsors and Collaborators
Mayo Clinic
Investigators
Principal Investigator: William E Haley, MD Mayo Clinic

Responsible Party: William E. Haley, M.D., PI, Mayo Clinic
ClinicalTrials.gov Identifier: NCT01127854     History of Changes
Other Study ID Numbers: 09-007826
First Posted: May 21, 2010    Key Record Dates
Last Update Posted: March 22, 2018
Last Verified: March 2018

Keywords provided by William E. Haley, M.D., Mayo Clinic:
kidney stone
urolithiasis
calcium oxalate kidney stone
calcium oxalate stone
calcium oxalate

Additional relevant MeSH terms:
Kidney Calculi
Nephrolithiasis
Urolithiasis
Kidney Diseases
Urologic Diseases
Urinary Calculi
Calculi
Pathological Conditions, Anatomical